Varaico: Literature-Extracted Genetic Variants

Gene:B4GALNT1
Variant:p.A99insFs

B4GALNT1

123 papers

RefSeq Summary

GM2 and GD2 gangliosides are sialic acid-containing glycosphingolipids. GalNAc-T is the enzyme involved in the biosynthesis of G(M2) and G(D2) glycosphingolipids. GalNAc-T catalyzes the transfer of Ga...

Pfam Domains

Glycos_transf_2aa 280–450UCSCGlycosyl transferase family 2

Gene Aliases

HGNC Name

beta-1,4-N-acetyl-galactosaminyltransferase 1

HGNC Previous Symbols

GALGT; SPG26

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001478.5
p.A99insFs
c.296dupC
Surrounding Variants
1 paper
NM_001478.5
p.A99A
c.297T>A
1 paper
NM_001478.5
p.D101_L102del2
c.301_305del6
1 paper
NM_001478.5
p.A105S
c.313G>T
1 paper
NM_001478.5
p.P92P
c.276C>A
1 paper
NM_001478.5
p.L91P
c.272T>C
1 paper
NM_001478.5
p.P108L
c.323C>T
1 paper
NM_001478.5
p.A109E
c.326C>A
2 papers
NM_001478.5
p.L89fs
c.265_266fs
1 paper
NM_001478.5
p.G87_L89delFs
c.260_266del7
1 paper
NM_001478.5
p.G88Fs
c.263delinsGCFs
1 paper
NM_001478.5
p.L89P
c.266T>C
9 papers
NM_001478.5
p.L89fs
c.265_266fs
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